| scholarly article | Q13442814 |
| P50 | author | Marni Falk | Q57158385 |
| P2093 | author name string | Marni J Falk | |
| P2860 | cites work | Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology | Q62671340 |
| Inhibitory effects of sodium valproate on oxidative phosphorylation | Q71579315 | ||
| Diagnostic yield muscle biopsy in patients with clinical evidence of mitochondrial cytopathy | Q74505864 | ||
| Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects | Q79619056 | ||
| Mitochondrial dysfunction and psychiatric disorders | Q79774804 | ||
| Folate deprivation promotes mitochondrial oxidative decay: DNA large deletions, cytochrome c oxidase dysfunction, membrane depolarization and superoxide overproduction in rat liver | Q80026869 | ||
| Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. | Q55039107 | ||
| Endothelial dysfunction in MELAS improved by l-arginine supplementation. | Q55042076 | ||
| Menkes disease: study of the mitochondrial respiratory chain in three cases | Q59698029 | ||
| SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome | Q22008476 | ||
| Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder | Q22008732 | ||
| A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency | Q22253915 | ||
| Treatment for mitochondrial disorders | Q24244543 | ||
| Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA) | Q24299174 | ||
| Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | Q24300846 | ||
| Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12 | Q24306951 | ||
| Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease | Q24309083 | ||
| Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy | Q24328756 | ||
| Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. | Q24534480 | ||
| Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics | Q24541342 | ||
| The neuroprotective properties of calorie restriction, the ketogenic diet, and ketone bodies | Q24646616 | ||
| A mitochondrial protein compendium elucidates complex I disease biology | Q24655079 | ||
| ETHE1 mutations are specific to ethylmalonic encephalopathy | Q24655953 | ||
| ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency | Q24656191 | ||
| Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders | Q24669541 | ||
| Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs | Q24672004 | ||
| Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu | Q24680662 | ||
| MitoRes: a resource of nuclear-encoded mitochondrial genes and their products in Metazoa | Q25255670 | ||
| Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A) | Q28117190 | ||
| Respiratory chain complex I deficiency | Q28189572 | ||
| The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA | Q28203048 | ||
| Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria | Q28204177 | ||
| Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex | Q28204687 | ||
| Effect of L-arginine on synaptosomal mitochondrial function | Q28250173 | ||
| Mitochondrial disorders in the nervous system | Q28272320 | ||
| Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment | Q28295618 | ||
| Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion | Q28301052 | ||
| Mitochondrial disease in autism spectrum disorder patients: a cohort analysis | Q28474112 | ||
| mTERF2 regulates oxidative phosphorylation by modulating mtDNA transcription | Q28512464 | ||
| Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome | Q28592510 | ||
| Central nervous system manifestations of mitochondrial disorders | Q31058031 | ||
| Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease | Q33330854 | ||
| Clinical and molecular features of mitochondrial DNA depletion syndromes. | Q33397750 | ||
| The in-depth evaluation of suspected mitochondrial disease | Q33608204 | ||
| Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy. | Q33665776 | ||
| Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency | Q34039865 | ||
| Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease | Q34063452 | ||
| Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review). | Q34250060 | ||
| Developmental regression and mitochondrial dysfunction in a child with autism | Q34505872 | ||
| Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome | Q34576053 | ||
| Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy | Q34614921 | ||
| A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases | Q34628278 | ||
| LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability | Q34699818 | ||
| Mitochondrial disease: a practical approach for primary care physicians. | Q34721044 | ||
| A modern approach to the treatment of mitochondrial disease | Q35011397 | ||
| Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activities | Q35188333 | ||
| Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations | Q35221744 | ||
| Should autistic children be evaluated for mitochondrial disorders? | Q35821629 | ||
| The epidemiology of mitochondrial disorders--past, present and future | Q35970168 | ||
| Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders. | Q35970174 | ||
| Disorders of nuclear-mitochondrial intergenomic signaling | Q36142300 | ||
| The incidence of inherited metabolic disorders in the West Midlands, UK. | Q36153326 | ||
| Mitochondrial myopathies: diagnosis, exercise intolerance, and treatment options | Q36332356 | ||
| Human coenzyme Q10 deficiency | Q36648798 | ||
| Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans. | Q36713732 | ||
| The essential requirement for superoxide radical and nitric oxide formation for normal physiological function and healthy aging | Q36743162 | ||
| Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria | Q36796199 | ||
| Pathogenic mitochondrial DNA mutations are common in the general population | Q36808847 | ||
| Mitochondrial complex I function modulates volatile anesthetic sensitivity in C. elegans. | Q36811391 | ||
| Coenzyme Q(10)--its role as a prooxidant in the formation of superoxide anion/hydrogen peroxide and the regulation of the metabolome | Q36812579 | ||
| Pathogenic mitochondrial DNA mutations in protein-coding genes | Q36822197 | ||
| RETRACTED: Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype | Q37036533 | ||
| Bidirectional Ca2+-dependent control of mitochondrial dynamics by the Miro GTPase | Q37081733 | ||
| Statin myopathy as a metabolic muscle disease | Q37230388 | ||
| How can we treat mitochondrial encephalomyopathies? Approaches to therapy | Q37329530 | ||
| A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases | Q37332269 | ||
| Mitochondrial DNA mutations in disease, aging, and neurodegeneration | Q37348532 | ||
| Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. | Q37428322 | ||
| Next generation sequence analysis for mitochondrial disorders | Q37442862 | ||
| Fever plus mitochondrial disease could be risk factors for autistic regression | Q37601811 | ||
| The mitochondrial DNA polymerase in health and disease. | Q37651211 | ||
| MiGenes: a searchable interspecies database of mitochondrial proteins curated using gene ontology annotation. | Q38519301 | ||
| Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. | Q39298440 | ||
| Human CoQ10 deficiencies | Q39837453 | ||
| Mitochondrial bioenergetics and structural network organization | Q40171308 | ||
| Mechanism of toxicity of pesticides acting at complex I: relevance to environmental etiologies of Parkinson's disease | Q40180518 | ||
| High-resolution respirometry--a modern tool in aging research | Q40369909 | ||
| Ketogenic diet slows down mitochondrial myopathy progression in mice | Q43157369 | ||
| Consequences of long-term oral administration of the mitochondria-targeted antioxidant MitoQ to wild-type mice. | Q43255574 | ||
| Mitochondrial defects and anesthetic sensitivity | Q43974443 | ||
| Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children | Q44213543 | ||
| Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain | Q44541451 | ||
| Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts | Q44863203 | ||
| Identification of novel mutations in five patients with mitochondrial encephalomyopathy. | Q44866941 | ||
| The novel human gene aprataxin is directly involved in DNA single-strand-break repair. | Q45272292 | ||
| L-arginine improves the symptoms of strokelike episodes in MELAS. | Q45280645 | ||
| Impaired mitochondrial functions in organophosphate induced delayed neuropathy in rats. | Q45973841 | ||
| Mitochondrial disorders, cognitive impairment and dementia | Q46096560 | ||
| The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle | Q46589787 | ||
| POLG mutations in Alpers syndrome | Q46613265 | ||
| Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment | Q46874324 | ||
| Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts | Q47734036 | ||
| Diagnostic criteria for respiratory chain disorders in adults and children. | Q51697654 | ||
| Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions. | Q51715540 | ||
| Ring 18 chromosome with mental retardation, hemidysmorphism, and mitochondrial encephalomyopathy. | Q52069123 | ||
| Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. | Q54221299 | ||
| Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments. | Q54584980 | ||
| P433 | issue | 7 | |
| P921 | main subject | mitochondrion | Q39572 |
| P304 | page(s) | 610-621 | |
| P577 | publication date | 2010-09-01 | |
| P1433 | published in | Journal of Developmental and Behavioral Pediatrics | Q15716752 |
| P1476 | title | Neurodevelopmental manifestations of mitochondrial disease | |
| P478 | volume | 31 |
| Q38093641 | Anesthetic considerations in patients with mitochondrial defects |
| Q55506352 | Maxwell's demon at work: Mitochondria, the organelles that convert information into energy? |
| Q58573031 | Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies |
| Q58573044 | Mitochondrial Genomics: A complex field now coming of age |
| Q84510175 | Mitochondrial disorders and the eye |
| Q38736014 | Mitochondrial dysfunction underlies cognitive defects as a result of neural stem cell depletion and impaired neurogenesis. |
| Q36762838 | Molecular genetic testing for mitochondrial disease: from one generation to the next |
| Q51734430 | Mutational Analysis of the Mitochondrial DNA Displacement-Loop Region in Human Retinoblastoma with Patient Outcome. |
| Q91724541 | Quantitative Proteomics of Presynaptic Mitochondria Reveal an Overexpression and Biological Relevance of Neuronal MitoNEET in Postnatal Brain Development |
| Q36725052 | The mitochondrial division inhibitor Mdivi-1 rescues mammalian neurons from anesthetic-induced cytotoxicity |
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